Summary
As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.
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Saraiva, M.J.M., Costa, P.P., Almeida, M.d.R. et al. Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Hum Genet 80, 341–343 (1988). https://doi.org/10.1007/BF00273648
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DOI: https://doi.org/10.1007/BF00273648